ArticleOxford medical case reports2020
Homozygous familial hypercholesterolemia with an update on cholesterol management.
Article in Oxford medical case reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed, 2 citations in OpenAlex.
- Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.Journal of personalized medicine · 2021Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH) is an autosomal dominant condition that increases the risk of premature cardiovascular disease. Despite advances in treatment, it remains under detected and under treated. As an inherited condition, it poses a risk to the patient and family members. Most cases are due to defective low-density lipoprotein receptor (LDLR) activity. Heterozygous mutations are common (1:250-1:300). Homozygous FH is very rare (2-3 in a million), with higher circulating cholesterol levels and a poorer cardiovascular prognosis. We present the management of a case of homozygous hypercholesterolemia due to homozygous LDLR mutation. The patient subsequently developed severe coronary artery and aortic valve disease despite aggressive lipid-lowering therapy. We review advanced lipid management options that include lipoprotein apheresis, Proprotein Convertase Subtilisin/Kexin type 9 inhibition, and the microsomal triglyceride transfer protein inhibitor lomitapide.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.